Mandibuloacral dysplasia with absent breast development

Çoğulu, Özgür; Gündüz, Cumhur; Arkun, Remide; Darcan, Şükran; Bengu, Kadioglu; Özkınay, Ferda; Ozkinay, Cihangir

doi:10.1002/ajmg.a.10169

Cited by 8 publications

(4 citation statements)

References 2 publications

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“…They ranged in age from four to 37 years, were originally diagnosed as MAD (17 patients from 12 families) or HGPS (5 patients from 2 families); and together had four different homozygous or compound heterozygous LMNA mutations and two compound heterozygous ZMPSTE24 mutations. A 21‐year‐old woman with a homozygous A529V LMNA mutation lacked breast development, although she attained menarche at age 10 and had regular menstruation cycle [Cogulu et al, 2003; Garg et al, 2005]. The woman we described with a homozygous A529T LMNA mutation and menarche at age 13 also lacked breast development.…”

Section: Discussionmentioning

confidence: 88%

“…To date, a total of 22 patients have been reported to have MAD and LMNA or ZMPSTE24 mutations (Table I) [Schrander‐Stumpel et al, 1992; Tudisco et al, 2000; Novelli et al, 2002; Agarwal et al, 2003; Cao and Hegele, 2003; Cogulu et al, 2003; Shen et al, 2003; Simha et al, 2003; Plasilova et al, 2004; Garg et al, 2005]. They ranged in age from four to 37 years, were originally diagnosed as MAD (17 patients from 12 families) or HGPS (5 patients from 2 families); and together had four different homozygous or compound heterozygous LMNA mutations and two compound heterozygous ZMPSTE24 mutations.…”

Section: Discussionmentioning

confidence: 99%

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Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes

Kosho

Takahashi

Momose

et al. 2007

American J of Med Genetics Pt A

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A 56-year-old Japanese woman with mandibuloacral dysplasia and type A lipodystrophy is described. Mutation analysis identified a homozygous missense mutation (1585G > A) in exon 9 of the LMNA gene that replaces well-conserved residue alanine at position 529 to threonine (A529T). The woman showed, in addition to the usual clinical manifestations of the disorder, severe progressive skeletal changes: osteoporotic changes with multiple fractures; osteolysis of the right radius; and destructive changes of the vertebrae, leading to compression of the cervical spinal cord and paraplegia. Laboratory findings included markedly reduced bone mineral density; significantly increased urine N-telopeptide of collagen type I, an osteoclast marker; and normal serum bone specific alkaline phosphatase, an osteoblast marker. Regular follow up of adult patients with the disorder is desirable, including skeletal radiography, estimates of bone mineral density, and biochemical markers of bone turnover. Treatment with bisphosphonates to inhibit osteoclast activity is likely to be beneficial.

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Section: Discussionmentioning

confidence: 88%

Section: Discussionmentioning

confidence: 99%

Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes

Kosho

Takahashi

Momose

et al. 2007

American J of Med Genetics Pt A

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“…Breast development is reduced to absent [180]. An autosomal recessive variant of MAD with generalized loss of adipose tissue (MADB, MIM # 608612) is due to mutations in Zmpste 24, i.e.…”

Section: V1 Mandibuloacral Dysplasiamentioning

confidence: 99%

The Nuclear Envelope, a Key Structure in Cellular Integrity and Gene Expression

Verstraeten

Broers²,

Ramaekers³

et al. 2007

CMC

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The envelope that encapsulates the cell nucleus has recently gained considerable interest, as several clinical syndromes are linked to mutations in its molecular components. Most disorders recognized so far are caused by defects in the nuclear lamins, building blocks of a filamentous network lining the nucleoplasmic side of the inner nuclear membrane. Nuclear lamins are the evolutionary precursors of cytoskeletal intermediate filaments and associate in a head-to-tail manner into a stable lamina at the nuclear periphery and into a more dispersed structure in the nucleoplasm. Lamins have a scaffolding function for several nuclear processes such as transcription, chromatin organization and DNA replication, and maintain nuclear and cellular integrity. Mutations in the LMNA gene, encoding A-type lamins, can cause cardiac and skeletal muscle disease, lipodystrophy and premature ageing phenotypes. Hence, the integrity of the nuclear envelope seems essential for longevity. Furthermore, the laminopathies provide evidence that metabolism and ageing are as tightly linked in humans as they are in model organisms such as C. elegans. In this review, we elaborate on the structure and functions of nuclear lamins, the spectrum of syndromes related to mutations in nuclear envelope components and pathogenic concepts unifying these disorders.

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“…Simha et al (2003) and Shen et al (2003) reported the same R527H homozygous mutation in patients of different ethnicities). Homozygous Arg527His and Ala529Val mutations in the LMNA gene have been reported previously in MADA (Cogulu et al, 2003;Garg et al, 2005;Kosho et al, 2007). The last reported MADA case with the LMNA mutation was the R527C mutation in the LMNA gene (Luo et al, 2014).…”

Section: Resultsmentioning

confidence: 95%

Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development

Özer¹,

Ünsal

Aktuna³

et al. 2016

Clinical Dysmorphology

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Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, lipodystrophy, alopecia, and skeletal anomalies. MAD patients are classified according to lipodystrophy patterns: type A and type B. The vast majority of MAD cases are caused by LMNA gene mutations. MAD patients with type A lipodystrophy (MADA) have been reported to have LMNA R527H, A529V, or A529T mutations. In this report, we describe two MADA patients with progressive skeletal changes, absent breast development, and cataract in addition to the classical MAD phenotype. Both patients were found to be homozygous for the Ala529Val mutation of the LMNA gene. Our female patient is the oldest MADA patient (59 years old) who has ever been reported with the LMNA mutation and also the LMNA Ala529Val mutation. This study is the second report on MADA patients with a homozygous Ala529Val mutation.

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Mandibuloacral dysplasia with absent breast development

Abstract: hormone (TSH), and serum-free thyroxine (FT4) levels were in the normal range. IGF1, IGFBP3, LHRH, and estradiol levels were also normal, as was her glucose tolerance test.

Cited by 8 publications

References 2 publications

Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes

Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes

The Nuclear Envelope, a Key Structure in Cellular Integrity and Gene Expression

Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development

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